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Proceedings of the National Academy of Sciences of the United States of America|May 6, 2015
Sequence type 1 group B Streptococcus, an emerging cause of invasive disease in adults, evolves by small genetic changesAnthony R Flores, Jessica Galloway-Peña, Pranoti Sahasrabhojane, et al.Biorxiv : the Preprint Server for Biology|November 24, 2025
A TLR7/9-IFNα-LDHB axis drives vital NET release and compromises antibacterial defense in lupusEden G TenBarge, Ashley D Wise, Morgan L Hetzel, et al.Archives of Ophthalmology (Chicago, Ill. : 1960)|July 14, 2004
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutationsSharola Dharmaraj, Bart P Leroy, Melanie M Sohocki, et al.JAMA Ophthalmology|May 26, 2017
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal DegenerationCristy A Ku, Sarah Hull, Gavin Arno, et al.Nature Genetics|March 8, 2011
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone lossMichael A Simpson, Melita D Irving, Esra Asilmaz, et al.Investigative Ophthalmology & Visual Science|June 7, 2017
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal DystrophyKamron N Khan, Mohammed E El-Asrag, Cristy A Ku, et al.American Journal of Human Genetics|February 7, 2008
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathwaysPreeti Bakrania, Maria Efthymiou, Johannes C Klein, et al.Journal of the Endocrine Society|December 22, 2017
Homozygous Resistance to Thyroid Hormone β: Can Combined Antithyroid Drug and Triiodothyroacetic Acid Treatment Prevent Cardiac Failure?Carla Moran, Abdelhadi M Habeb, George J Kahaly, et al.Cell Host & Microbe|February 28, 2025
Mitochondria sense bacterial lactate and drive release of neutrophil extracellular trapsAshley D Wise, Eden G TenBarge, Jessica D C Mendonça, et al.European Journal of Human Genetics : EJHG|September 13, 2023
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new familiesVani Jain, Seow Hoong Foo, Stephen Chooi, et al.Pageof 36